Genetics Testing

Carolyn M. Clancy, MD

Director

Agency for Healthcare Research and Quality

AHRQ Priorities

Effective Health Care Program

Medical Expenditure Panel Surveys

Ambulatory Patient Safety

Patient Safety Health IT Patient Safety

Organizations New Patient

Safety Grants Comparative Effectiveness Reviews

Patient-Centered Outcomes Research

Clear Findings for Multiple Audiences

Quality & Cost-Effectiveness, e.g. Prevention and Pharmaceutical Outcomes

U.S. Preventive Services Task Force

MRSA/HAIs

Visit-Level Information on Medical Expenditures

Annual Quality & Disparities Reports

Safety & Quality Measures, Drug Management and Patient-Centered Care

Patient Safety Improvement Corps

Other Research & Dissemination Activities

Efficacy vs. Effectiveness

Clinical Trials Clinical Practice Efficacy Effectiveness

Single diagnosis High-risk patients with co-morbid conditions

Drug vs. placebo Multiple drug choices and alternatives

Exclusions of user groups e.g., elderly

Use is generally unlimited

Clinical endpoints, biomarkers Death, disability, QoL

Genetics/biology Sociology/psychology

“Artificial” settings Real world clinics

Support for U.S. Preventive Services Task Force (USPSTF)

Evidence-Based Practice Centers support The Guide to Clinical Preventive Services: Recommendations of the U.S. Preventive Services Task Force

Prepare systematic evidence reviews and evidence summaries for topics under consideration by Task Force

CT Colonography is Replacing Other Methods

“Two types of studies to assess the sensitivity of colonoscopy – tandem colonoscopy studies, in which the same patient is studied twice, and studies comparing colonoscopy and CT colonography – show that colonoscopy may miss even polyps larger than 10 mm and colorectal cancer.”

“Recent clinical studies of CT colonography suggest that this screening method may be at least as sensitive as optical colonoscopy at identifying colorectal cancer and large adenomas in the community setting.”

U.S. Preventive Services Task Force www.uspreventiveservicestaskforce.org

Angelina Jolie’s Decision

She carries a defective BRCA1 gene that puts her at high risk of developing breast and ovarian cancer – Her mother had breast

cancer and died of ovarian cancer

– Her maternal grandmother had ovarian cancer

Challenges in Genomic Medicine

Clarify benefits and harms of genetic tests – Urgent need for electronic infrastructure to

support CDS, assess real world penetrance

– Collaboration with guideline and quality measure developers

Clarify value of adding genomic test(s) to existing diagnostic tests / strategies – Assure appropriate use – Feedback from care delivery to science

Cancer Registries (ARRA)

$20 million contract to support 15 specialized cancer registries to include genetic information, prognostic biomarkers, etc. – Colorectal: assessment of uptake and

outcomes for KRAS, including survival differences

– Breast: appropriateness of HER testing – CML: appropriate use of BCR-ABL gene,

survival and outcome differences – Important insights re standard processes**

How AHRQ Can Help

Leverage expertise and investments in patient-centered outcomes research (PCOR) – Methods for analyzing observational data,

strong focus on patient registries, dx tests – Unique mandate to disseminate PCOR* – MEPS as potential platform for public

attitudes, understanding – Emerging experience with CDC re

challenges for incorporating genetic information in cancer registries

Knowledge Transfer Case Study:

Anaconda Internal Medicine (Montana)

U.S. Preventive Services Task Force/electronic Preventive Services Selector (ePSS) – Incorporated ePSS into

curriculum so students in clinical rotations learn to use preventive care recommendations

– Incorporated USPSTF recommendations into office-based technology system (DocSite)

Multidisciplinary Science: EDM Forum Research Networks

The Indiana PROSPECT (Prospective Outcomes Systems using Patient-specific Electronic data to Compare Tests and Therapies)

Builds on the Indiana Network for Patient Care, the nation’s largest HIE

Enhancement for capturing richer data include incorporating genomic and other higher throughput results

www.edm-forum.org

11 Projects Using Electronic Health Research for CER/PCOR and QI, including:

AHRQ Health Care Innovations Exchange

Web-based repository of cutting-edge service innovations

www.innovations.ahrq.gov

Thank You

AHRQ Mission

To improve the quality, safety, efficiency, and effectiveness of health care for all Americans

AHRQ Vision

As a result of AHRQ's efforts, American health care will provide services of the highest quality, with the best possible outcomes, at the lowest cost

www.ahrq.gov